| Budget Amount *help |
¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2014: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2013: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2012: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Outline of Final Research Achievements |
Hypophosphatasia (HPP) is an inborn error of metabolism, characterized by hypomineralization of bone and teeth and a deficiency of tissue-nonspecific alkaline phosphatase (TNSALP). To date more than 300 mutations have been reported in the TNSALP gene worldwide. We investigated the effects of 6 independent missense mutations, which were found to be transmitted in a recessive or dominant way, on TNSALP in a molecular level. Our studies have revealed not only the molecular basis of HPP caused by each missense mutation, but also the physiological significance of TNSALP regarding to mineralization.
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